ClinVar Miner

List of variants studied for autosomal anomaly by Mendelics

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr) rs61754648 0.00181
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro) rs142515048 0.00039
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys) rs766665093 0.00001
NM_016111.4(TELO2):c.1842+5G>A rs758551997 0.00001
NM_000304.4(PMP22):c.78+3G>T rs1597635528
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) rs1564405163
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs) rs2131488863
NM_001002295.2(GATA3):c.708del (p.Ser237fs) rs771019738
NM_001002295.2(GATA3):c.925-3_925-2del rs763236375
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.474-2A>G rs1574566973
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) rs1296916399
NM_001378414.1(HDAC4):c.95-98del rs74761897
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs) rs2147306077
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro) rs1202957297
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_006940.6(SOX5):c.1489-2A>G rs2136075793
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_022455.5(NSD1):c.1743del (p.Glu581fs) rs794729232
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter) rs2149846817
NM_022455.5(NSD1):c.3922-1G>C rs1581407682
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) rs1581408152
NM_022455.5(NSD1):c.4193-1G>A rs1581411423
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.5303+1G>A rs587784141
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter) rs1581527842
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) rs2127279165
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter) rs1581563059
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_078480.3(PUF60):c.208-1G>A rs1229324113
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer) rs1586590135
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter) rs1464053660
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_172349.5(NSD1):c.-151+112_-151+113del rs1581082075

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