List of variants reported as likely pathogenic for congenital hypogonadotropic hypogonadism by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 73

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HGVS	dbSNP	gnomAD frequency
NM_012414.4(RAB3GAP2):c.713-2A>G	rs797045103	0.00007
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)	rs780597592	0.00001
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His)	rs765943226	0.00001
NM_025000.4(DCAF17):c.982-2A>C	rs780493577	0.00001
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1513G>T (p.Val505Phe)	rs1603004514
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly)	rs128621201
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu)	rs2147427209
NM_000061.3(BTK):c.1567-117_1604del	rs2147425786
NM_000061.3(BTK):c.1631+5G>C	rs1926404279
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr)	rs1927146374
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)	rs1603002421
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val)	rs1926378381
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu)	rs1603001805
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)	rs128621210
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)	rs1926352588
NM_000061.3(BTK):c.1908+1G>T	rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu)	rs1926219727
NM_000061.3(BTK):c.240+109C>A	rs2147447393
NM_000061.3(BTK):c.305T>C (p.Phe102Ser)	rs2147444867
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.839+1G>C	rs1569292649
NM_000061.3(BTK):c.840-1G>A	rs193922131
NM_000061.3(BTK):c.884T>C (p.Leu295Pro)	rs1926588125
NM_000061.3(BTK):c.974+5G>C	rs2147430161
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del	rs1555972943
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)	rs1569268070
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)	rs104894888
NM_003865.3(HESX1):c.158-1G>C	rs1238248024
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_017780.4(CHD7):c.2377-1G>A	rs2150711063
NM_017780.4(CHD7):c.2613+1G>T	rs587783432
NM_017780.4(CHD7):c.2613+1del	rs1060503189
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)	rs1804098493
NM_017780.4(CHD7):c.3201+1G>A	rs1804103264
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)	rs1804153455
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr)	rs1554598013
NM_017780.4(CHD7):c.3523-2A>C	rs2150764574
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)	rs864309609
NM_017780.4(CHD7):c.3989+2T>G
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg)	rs770166812
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly)	rs1804990594
NM_017780.4(CHD7):c.5211-2_5227del	rs1805310101
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)	rs1563656016
NM_017780.4(CHD7):c.5404+2T>C
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
NM_017780.4(CHD7):c.5894+5G>A	rs1805486327
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val)	rs1805504949
NM_017780.4(CHD7):c.6104-2A>T	rs1805513214
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly)	rs1064794250
NM_017780.4(CHD7):c.6776-1G>A
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del)	rs2129650387
NM_017780.4(CHD7):c.7971+1G>T	rs1554606274
NM_025000.4(DCAF17):c.1092-2A>G
NM_025000.4(DCAF17):c.126+2T>G
NM_025000.4(DCAF17):c.1267-2A>C
NM_025000.4(DCAF17):c.537+1G>T

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