List of variants in gene combination LOC100506321, MAX reported as uncertain significance for adrenal gland disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_002382.5(MAX):c.133A>G (p.Ser45Gly)	rs780865640	0.00001
NM_002382.5(MAX):c.140G>A (p.Arg47Gln)	rs2063580413	0.00001
NM_002382.5(MAX):c.104G>A (p.Arg35His)
NM_002382.5(MAX):c.115A>G (p.Ile39Val)	rs2063580953
NM_002382.5(MAX):c.125G>A (p.Ser42Asn)
NM_002382.5(MAX):c.125G>C (p.Ser42Thr)
NM_002382.5(MAX):c.130C>T (p.His44Tyr)	rs2139884129
NM_002382.5(MAX):c.134G>A (p.Ser45Asn)	rs2139883912
NM_002382.5(MAX):c.137T>G (p.Leu46Trp)	rs2139883766
NM_002382.5(MAX):c.138G>C (p.Leu46Phe)	rs1595166865
NM_002382.5(MAX):c.139C>T (p.Arg47Trp)	rs866762160
NM_002382.5(MAX):c.142G>A (p.Asp48Asn)	rs2139883514
NM_002382.5(MAX):c.148G>A (p.Val50Ile)
NM_002382.5(MAX):c.152C>T (p.Pro51Leu)	rs2139882999
NM_002382.5(MAX):c.157C>A (p.Leu53Ile)
NM_002382.5(MAX):c.161A>G (p.Gln54Arg)
NM_002382.5(MAX):c.162A>C (p.Gln54His)	rs2063580081
NM_002382.5(MAX):c.171+5G>A
NM_002382.5(MAX):c.171+6T>A	rs1060500098
NM_002382.5(MAX):c.171+6T>C	rs1060500098
NM_002382.5(MAX):c.171G>A (p.Lys57=)	rs2139882332
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
NM_002382.5(MAX):c.67G>A (p.Asp23Asn)	rs2139887316
NM_002382.5(MAX):c.68A>T (p.Asp23Val)
NM_002382.5(MAX):c.71A>G (p.Lys24Arg)	rs1174960252
NM_002382.5(MAX):c.73C>T (p.Arg25Trp)
NM_002382.5(MAX):c.98G>A (p.Arg33Gln)

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